Notes

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Familial hypocalciuric hypercalcemia (FHH) is a group of autosomal dominant genetic diseases with persistent hypercalcemia and hypocalciuria. The calcium-sensitive receptor (CaSR) plays an important role in calcium and phosphorus metabolism.

A 32-year-old man who had diabetes was admitted to our hospital due to poor glycemic control, and was found to have hypercalcemia, hypophosphatemia, and hyperparathyroidism. Single-Photon Emission Computed Tomography (SPECT) (99-mTcMIBI) examination result was negative. The result of 24-h urine calcium was 2.18 mmol/24 h, and the 24-h urinary calcium to creatinine ratio (UCCR) was 0.006. Family survey showed that all of the family members had hypercalcemia.

The CaSR gene mutation study revealed that the proband had a homozygous mutation for a T>C nucleotide substitution at c.1664 in exon 6, while both the mother and the father had heterozygous mutations at the same site of exon 6. The clinical diagnosis was considered to be FHH type1.

The patient was treated wiction therapy was ineffective and parathyroid surgery cannot alleviate their hypercalcemia.
Maturity-onset diabetes of the young type 5 (MODY 5) is a form of monogenic diabetes that is often accompanied by pancreatic dysfunction. To date, no cases of MODY 5 treated with glucagon-like peptide-1 receptor agonist (GLP-1RA) have been reported. We present the first case of MODY 5 treated with GLP-1RA.

A 17-year-old woman, with a history of being operated for congenital ileal atresia at birth, was admitted to our hospital due to hyperglycemia. She had been clinically diagnosed with type 1 diabetes 1 month prior, and administered 14 units of insulin glargine 300 U/mL per day.

She had hypopotassemia, hypomagnesaemia, pancreatic body, and tail defects, multiple renal cysts, and a family history of diabetes, and urogenital anomaly. Genetic testing revealed heterozygous deletion of hepatocyte nuclear transcription factor-1 beta, leading to the diagnosis of MODY 5.

The patient was treated with multiple daily insulin injections for 9 days (22 units/d) before administration of GLP-1RA, and then liraglutide was initiated.

Liraglutide treatment (0.6 mg/d) alone maintained the patient's glycated hemoglobin level below 7.0% for at least 12 months after discharge. A higher dose, 0.9 mg/d, of liraglutide was not tolerated by the patient due to nausea. Serum levels of C-peptide immunoreactivity were 1.15 ng/mL and 1.91 ng/mL, respectively, after 6 and 12 months of liraglutide therapy.

GLP-1RA might be effective at regulating glucose metabolism by utilizing residual pancreatic endocrine function in patients with MODY 5. Imaging and genetic screening were helpful in the diagnosis of MODY 5.
GLP-1RA might be effective at regulating glucose metabolism by utilizing residual pancreatic endocrine function in patients with MODY 5. Imaging and genetic screening were helpful in the diagnosis of MODY 5.
Aggressive variant of splenic marginal zone lymphoma (AV-SMZL) is a very rare disease that is often associated with TP53 mutations and has a poor prognosis. On the other hand, recent advances in genome sequencing techniques enable us to understand the molecular characteristics of rare cancers such as AV-SMZL. Here we present a case of AV-SMZL analyzed using a genetic test.

A 66-year-old woman was admitted with splenomegaly and lymphocytosis. Computed tomography revealed marked splenomegaly without lymphadenopathy in any other areas. The serum soluble interleukin-2 receptor (sIL-2R) level was significantly elevated. Peripheral and bone marrow blood tests showed an increase in abnormal lymphocytes.

A splenectomy revealed an SMZL pattern with increased numbers of large cells and mitotic cells and a high Ki-67 positivity rate, which led to a diagnosis of AV-SMZL. Although TP53 mutation was not detected, mutations in NOTCH2, NCOA4, PTEN, EPHA3, and KMT2D were identified. Among these, the mutations in NCOA4, PTEN, and EPHA3 were novel pathogenic mutations in SMZL, which suggests they may be related to the aggressiveness and persistence of the disease.

The patient was administered a rituximab-containing regimen and rituximab-maintenance therapy.

The patient continues to exhibit a complete response.

This is a case of AV-SMZL in which a cancer panel test successfully detected genetic alterations that are potentially associated with its pathogenesis. These findings suggest that genetic analysis is useful for making diagnoses as well as for determining treatment strategies in AV-SMZL.
This is a case of AV-SMZL in which a cancer panel test successfully detected genetic alterations that are potentially associated with its pathogenesis. These findings suggest that genetic analysis is useful for making diagnoses as well as for determining treatment strategies in AV-SMZL.
Follicular dendritic cell sarcoma (FDCS) is a rare malignant tumor that originates from germinal center follicular dendritic cells, and can occur at both nodal and extranodal sites. There are very few described cases of FDCS arising in the chest wall.

A 44-year-old male patient presented with a history of right chest wall pain for 5 months.

Positron emission tomography/computed tomography showed a significant increase in F-fluorodeoxyglucose uptake and multiple small axillary lymph nodes without hypermetabolic lesions. Immunohistochemistry results of a core-needle biopsy indicated FDCS, which was consistent with the postoperative pathological examination.

The patient underwent tumor resection with lymphadenectomy of level I axillary nodes. No metastasis in the lymph nodes was observed in the postoperative pathological examination. The patient did not accept chemotherapy or radiotherapy.

After 18 months, the patient remains in good condition with no evidence of disease recurrence.

This report highlights a rare case of a FDCS arising in the chest wall. Accurate clinical diagnosis and staging of this rare malignant sarcoma is essential for the developmnt of effective treatment strategies. Preoperative F-fluorodeoxyglucose positron emission tomography/computed tomography scanning combined with core-needle biopsy could provide differentiation between benign and malignant tumors, as well as lymph node involvement and metastatic status.
This report highlights a rare case of a FDCS arising in the chest wall. Accurate clinical diagnosis and staging of this rare malignant sarcoma is essential for the developmnt of effective treatment strategies. Preoperative F-fluorodeoxyglucose positron emission tomography/computed tomography scanning combined with core-needle biopsy could provide differentiation between benign and malignant tumors, as well as lymph node involvement and metastatic status.
We report a case of central retinal artery occlusion (CRAO) accompanied by choroidal folds in a patient positive for myeloperoxidase (MPO)-antineutrophil cytoplasmic antibody (ANCA).

The study involved a 67-year-old female patient who presented at the Department of Ophthalmology, Osaka Medical College, Takatsuki-City, Osaka, Japan on October 24, 2016 after becoming aware of a sudden decrease of visual acuity (VA) in her right eye. Other than suffering with scleritis 6-months previous, there was no obvious past history.

Upon examination, the VA in her right eye was hand motion, and the anterior segment of that eye showed thinning of the superior sclera. Macular edema in the inner retina and cherry red spots were observed in the ocular fundus, and optical coherence tomography (OCT) findings showed hyperreflectivity of the inner retina and choroidal folds. Fluorescein angiography (FA) examination of the fundus showed scattered areas of no retinal perfusion, and indocyanine green angiography (IA) findings of the fundus indicated a possible choroidal circulatory disturbance in her right eye. Blood test findings revealed the patient to be positive for MPO-ANCA. Based on the above findings, the patient was diagnosed with CRAO and choroidal circulatory disturbance due to ANCA-associated vasculitis.

For treatment, steroid semi-pulse therapy was initiated.

Post treatment initiation, the fundus features and choroidal folds gradually improved, and her VA slightly improved to 0.08.

Based on the FA, IA, and OCT findings, the present case was considered to have CRAO accompanied by choroidal circulatory disturbance due to ANCA-associated vasculitis, a rare disease that may be complicated by choroidal circulatory disturbances.
Based on the FA, IA, and OCT findings, the present case was considered to have CRAO accompanied by choroidal circulatory disturbance due to ANCA-associated vasculitis, a rare disease that may be complicated by choroidal circulatory disturbances.
Xiaoaiping injection, extracted from the Chinese herb Marsdenia tenacissima (Roxb.) Wight et Arn., is a broad-spectrum anti-tumor drug and has been widely used for the treatment of breast cancer in China. The aim of this study is to systematically investigate the efficacy and safety of Xiaoaiping injection for the treatment of breast cancer.

We will perform the comprehensive literature search in the following databases from their inceptions to August 2020 for data extraction PubMed, the Cochrane Library, Embase, the China National Knowledge Infrastructure, Wanfang Database, Chinese Science and Technology Periodical Database, and Chinese Biomedical Literature Database. click here Cochrane Risk of Bias tool will be used to assess the risk of bias of included studies. The RevMan 5.4 and Stata 16.0 software will be applied for statistical analyses. Statistical heterogeneity will be computed by I2 tests. Sensitivity analysis will be conducted to evaluate the stability of the results. The publication bias will be evaluated by funnel plots and Egger's test. The quality of evidence will be assessed by the GRADE system.

The results of our research will be published in a peer-reviewed journal.

The conclusion of this study will provide evidence to show whether Xiaoaiping injection is an effective intervention for patient with breast cancer.

10.17605/OSF.IO/4ZUXC.
10.17605/OSF.IO/4ZUXC.
This study will systematically assess the efficacy and safety of Bacillus Calmette-Guerin (BCG) for patients with bladder cancer (BC).

Literature searches will be performed in multiple electronic databases from inception to present MEDLINE, EMBASE, CINAHL, Science Direct, Cochrane Library, Web of Science, and China National Knowledge Infrastructure. We will also examine grey literature through identifying conference proceedings, thesis, dissertations, and website of clinical trials registry. Two investigators will independently scan all citation titles, abstracts, and full-text studies. The study quality will be assessed by Cochrane Risk of Bias Tool. If possible, we will perform meta-analysis. Additional analyses will be carried out to test the potential sources of heterogeneity among included trials.

The present study will summarize high quality trials on investigating the efficacy and safety of BCG for patients with BC.

The results of this study will supply helpful evidence to determine whether BCG is effective or not for BC.

INPLASY202070042.
INPLASY202070042.
Cerebral infarction (CI) is a common disease with high morbidity and disability. Shuxuetong (SXT) injection is a Chinese Materia Medica standardized product used in the treatment of CI. Currently, there is a lack of high-quality evidence to support the effectiveness and safety of SXT on patients with CI. This systematic review protocol aims at describing a meta-analysis to evaluate the efficacy of SXT for the treatment of CI.

We will search the databases of PubMed, MEDLINE, Embase, Cochrane Library Central Register of Controlled Trials, China national knowledge infrastructure database (CNKI), Wan fang database, Chongqing VIP information, and SinoMed from their inception to Jun 2020. Two reviewers will independently screen Randomized controlled trials of SXT for the treatment of CI. The meta-analysis will be conducted using RevMan V.5.3 software.

The results of this study will be published in a peer-reviewed journal.

The conclusion of our systematic review will provide evidence to judge whether SXT is an effective intervention for patients with CI.
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